Variant report

Variant	rs17111601
Chromosome Location	chr14:81717808-81717809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:81717699-81717989	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81715864..81717635-chr14:81717686..81719523,2	K562	blood:
2	chr14:81712042..81713617-chr14:81715610..81718597,2	K562	blood:
3	chr14:81683519..81693455-chr14:81706363..81723125,33	MCF-7	breast:
4	chr14:81712017..81715748-chr14:81716669..81719920,4	MCF-7	breast:
5	chr14:81682255..81691444-chr14:81709014..81722196,43	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10133562	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10483975	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs11621116	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12586249	0.83[AMR][1000 genomes]
rs2241622	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2371562	1.00[YRI][hapmap]
rs3813535	0.81[CEU][hapmap]
rs6574634	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7142641	0.83[CEU][hapmap]
rs7149103	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7149294	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7160599	0.94[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7161073	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8009696	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8009888	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81711600-81722000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:81714000-81725600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:81714000-81725800	Weak transcription	NHEK	skin
4	chr14:81714200-81725600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:81714200-81726000	Weak transcription	HMEC	breast
6	chr14:81714200-81738600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:81714400-81725800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:81714400-81734000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:81714600-81725400	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:81714600-81726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:81714800-81726200	Weak transcription	Placenta	Placenta
12	chr14:81715200-81723000	Weak transcription	Dnd41	blood
13	chr14:81715600-81718600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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